| Gene Symbol | NDUFS3 |
| Chromosome | 19p13.3 |
| Protein Type | Oxidoreductase |
| Function | encodes a core component of mitochondrial complex I (NADH:ubiquinone oxidoreductase), the largest enzyme complex of the electron transport chain[@kirby2004]. |
| Molecular Weight | 30 kDa |
| Ensembl ID | ENSG00000103245 |
| GeneCards | NDUFS3 |
| Human Protein Atlas | NDUFS3 |
| N-terminal domain | Contains the mitochondrial targeting sequence for import |
| Core domain | Houses two [2Fe-2S] iron-sulfur clusters (N1a and N1b) responsible for electron transfer |
| Interface region | Contacts neighboring core subunits (NDUFS2, NDUFV1, NDUFV2) to form the catalytic module |
| Biochemical studies | Complex I activity is reduced by 30-40% in PD substantia nigra pars compacta neurons[@schapira2012] |
| Postmortem analysis | NDUFS3 protein levels and complex I assembly are impaired in PD brains[@zago2018] |
| Genetic associations | Rare variants in complex I subunits, including NDUFS3, have been identified in PD cohorts[@filograna2021] |
| Sporadic PD | The majority of PD cases show complex I dysfunction even without identified genetic mutations[@schapira2012] |
| Associated Diseases | neurodegeneration |
| Interactions | ACO2, ATP5A1, MDH2, PDHB, SDHA, SUCLG1 |
| KG Connections | 6 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
No AI portrait yet
No comments yet. Be the first to comment!